Recessive mutations in PTHR1 cause constrasting skeletal dysplasias in Eiken and Blomstrand syndromes

Human Molecular Genetics

Volumn 14, Issue 1, 2005, Pages 1-5

  Duchatelet, Sabine ^a   Ostergaard, Elsebet ^b   Cortes, Dina ^c   Lemainque, Arnaud ^d   Julier, Cécile ^a  

^a INSTITUT PASTEUR   (France)

^b JOHN F KENNEDY INSTITUTE   (Denmark)

^c GLOSTRUP UNIVERSITY HOSPITAL   (Denmark)

^d CENTRE NATIONAL DE GÉNOTYPAGE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PARATHYROID HORMONE RELATED PROTEIN RECEPTOR;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BONE DYSPLASIA; CARBOXY TERMINAL SEQUENCE; CHONDROMATOSIS; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CYTOPLASM; DNA SEQUENCE; ENCHONDROMATOSIS; FAMILY STUDY; GENE INACTIVATION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; HUMAN CELL; LINKAGE ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECESSIVE GENE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

AMINO ACID SEQUENCE; BONE DISEASES, DEVELOPMENTAL; ENCHONDROMATOSIS; EXOSTOSES, MULTIPLE HEREDITARY; FEMALE; GENES, RECESSIVE; HUMANS; MALE; PEDIGREE; RECEPTOR, PARATHYROID HORMONE, TYPE 1; SEQUENCE DELETION;

EID: 12344338238     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddi001     Document Type: Article

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